Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908771
CFTR
0.925 0.160 7 117534316 frameshift variant T/-;TT delins 2
rs121908779
CFTR
0.925 0.160 7 117592090 frameshift variant CTCAAAACT/A delins 2
rs121908780
CFTR
0.925 0.160 7 117592140 frameshift variant GAAATTCAATCCT/AGAAA delins 2
rs121908784
CFTR
0.925 0.160 7 117642464 frameshift variant A/- del 1.4E-05 2
rs121908785
CFTR-AS1 ; CFTR
0.925 0.160 7 117542050 frameshift variant -/TA delins 2
rs121908786
CFTR
0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 2
rs121908789
CFTR
0.925 0.160 7 117642487 frameshift variant -/T delins 7.0E-06 2
rs121908801
CFTR
0.925 0.160 7 117530937 frameshift variant A/- delins 2.1E-05 2
rs121908808
CFTR
0.925 0.160 7 117652851 frameshift variant -/T delins 2
rs121908812
CFTR
0.925 0.160 7 117592178 frameshift variant T/- delins 2
rs121909012
CFTR
0.925 0.160 7 117594990 stop gained C/T snv 2
rs121909036
CFTR
0.925 0.160 7 117611635 missense variant T/C;G snv 2
rs12793173
LOC102723568
0.925 0.160 11 34812657 intergenic variant T/C snv 0.18 2
rs1351058559
CFTR
0.925 0.160 7 117540099 splice acceptor variant G/A;C snv 2
rs143570767
CFTR
0.925 0.160 7 117642594 splice donor variant G/A;T snv 2
rs1554381605
CFTR ; CFTR-AS1
0.925 0.160 7 117542040 stop gained A/T snv 2
rs1554390864
CFTR
0.925 0.160 7 117602847 frameshift variant -/TG delins 2
rs1554391033
CFTR
0.925 0.160 7 117603679 frameshift variant ACCACT/TCAGA delins 2
rs1800080
CFTR
0.925 0.120 7 117534330 missense variant A/G snv 2
rs193922510
CFTR
0.925 0.160 7 117603683 frameshift variant -/T delins 2
rs193922515
CFTR
0.925 0.160 7 117610517 splice acceptor variant A/G;T snv 2
rs193922532
CFTR
0.925 0.160 7 117536629 stop gained C/G snv 7.0E-06 2
rs367934560
CFTR-AS1 ; CFTR
0.925 0.160 7 117548732 stop gained C/A;G;T snv 2
rs387906360
CFTR
0.925 0.160 7 117540248 frameshift variant -/TC delins 2
rs397508144
CFTR
0.925 0.160 7 117540251 missense variant T/C snv 2